Unc80^em1Dren
Endonuclease-mediated Allele Detail

Summary

• Symbol: Unc80^em1Dren
• Name: unc-80, NALCN activator; endonuclease-mediated mutation 1, Dejian Ren
• MGI ID: MGI:6451179
• Synonyms: Unc80^-
• Gene: Unc80 Location: Chr1:66507526-66738307 bp, + strand Genetic Position: Chr1, 33.56 cM
• Alliance: Unc80^em1Dren page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology deleted exon 3 and part of the surrounding introns (total of 157 nucleotides) leading to truncation after V47. This truncation removes 3279 of 3326 residues of the protein. Western blot analysis with an antibody against the C-terminal 15 residues confirmed absence of protein in the brain. (J:291847)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Unc80 Mutation: 184 strains or lines available

References

• Original: J:291847 Wie J, et al., Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex. Nat Commun. 2020 Jul 3;11(1):3351
• All: 1 reference(s)